Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.36097479G>T , CM000663.2:g.36097479G>T | GRCh38 |
| NC_000001.10:g.36563080G>T , CM000663.1:g.36563080G>T | GRCh37 |
| NC_000001.9:g.36335667G>T | NCBI36 |
| NG_016245.2:g.32606C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005202.4:c.*90C>A MANE Select | NP_005193.1:n.*90C>A |
| ENST00000397799.2:c.*90C>A MANE Select | ENSP00000380901.1:n.*90C>A |
| NM_001294347.1:c.*90C>A | NP_001281276.1:n.*90C>A |
| NM_001294347.2:c.*90C>A | NP_001281276.1:n.*90C>A |
| NM_005202.3:c.*90C>A | NP_005193.1:n.*90C>A |
| ENST00000303143.9:c.*90C>A | ENSP00000305913.4:n.*90C>A |
| ENST00000397799.1:c.*90C>A | ENSP00000380901.1:n.*90C>A |
| XM_005270477.2:c.*90C>A | XP_005270534.1:n.*90C>A |
| XM_005270477.3:c.*90C>A | XP_005270534.1:n.*90C>A |